A medical geneticist is a doctor who specializes in diagnosing and treating genetic disorders. They have specialized training in the field of medical genetics, which involves understanding how genes work and how they can cause diseases.
Medical geneticists use a variety of tools and techniques to diagnose genetic disorders, including:
- Family history: Taking a detailed family history can help identify patterns of genetic disorders.
- Physical examination: A physical exam can help identify physical signs and symptoms associated with genetic disorders.
- Genetic testing: Genetic tests can analyze DNA to identify specific gene mutations that cause genetic disorders.
- Imaging studies: Imaging studies, such as X-rays, CT scans, and MRIs, can help identify structural abnormalities associated with genetic disorders.
Medical geneticists also work with patients and their families to provide genetic counseling, which involves explaining the diagnosis, risks, and treatment options for genetic disorders.
